MCID: SLL003
MIFTS: 43

Salla Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Salla Disease

MalaCards integrated aliases for Salla Disease:

Name: Salla Disease 53 72 49 55 71 28 13
Sialuria, Finnish Type 53 49
Sd 53 71
Sialic Acid Storage Disease, Finnish Type 69
Finnish Type Sialuria 71

Characteristics:

Orphanet epidemiological data:

55
salla disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/100000 (Sweden); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
increased frequency in finland
allelic to infantile sialic acid storage disorder
normal in neonatal period
onset at 6-9 months


HPO:

31
salla disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Salla Disease

NIH Rare Diseases : 49 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. Last updated: 10/14/2011

MalaCards based summary : Salla Disease, also known as sialuria, finnish type, is related to intermediate severe salla disease and shwachman-diamond syndrome, and has symptoms including ataxia, seizures and athetosis. An important gene associated with Salla Disease is SLC17A5 (Solute Carrier Family 17 Member 5), and among its related pathways/superpathways are Tuberculosis and Phagosome. Affiliated tissues include brain and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999). (604369)

UniProtKB/Swiss-Prot : 71 Salla disease: Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow.

Wikipedia : 72 Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal... more...

Related Diseases for Salla Disease

Graphical network of the top 20 diseases related to Salla Disease:



Diseases related to Salla Disease

Symptoms & Phenotypes for Salla Disease

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
seizures
athetosis
spasticity
dysarthria
more
Growth Other:
growth retardation

Growth Height:
height 2 s.d. below expected height

Head And Neck Eyes:
nystagmus
exotropia

Skeletal Skull:
thick calvaria

Laboratory Abnormalities:
increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts


Clinical features from OMIM:

604369

Human phenotypes related to Salla Disease:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 seizures 31 HP:0001250
3 athetosis 31 HP:0002305
4 nystagmus 31 HP:0000639
5 intellectual disability 31 HP:0001249
6 spasticity 31 HP:0001257
7 dysarthria 31 HP:0001260
8 global developmental delay 31 HP:0001263
9 delayed speech and language development 31 HP:0000750
10 thickened calvaria 31 HP:0002684
11 abnormality of metabolism/homeostasis 31 HP:0001939
12 growth delay 31 HP:0001510
13 inability to walk 31 HP:0002540
14 generalized hypotonia 31 HP:0001290
15 exotropia 31 HP:0000577
16 vacuolated lymphocytes 31 HP:0001922

UMLS symptoms related to Salla Disease:


seizures, muscle spasticity, athetosis, ataxia

GenomeRNAi Phenotypes related to Salla Disease according to GeneCards Suite gene sharing:

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.09 LAMP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.09 SLC17A5 LAMP2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.09 LAMP2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.09 LAMP2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.09 SLC17A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.09 LAMP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.09 SLC17A5 LAMP2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.09 SLC17A5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.09 SLC17A5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.09 LAMP2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.09 LAMP2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.09 LAMP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.09 LAMP2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.09 LAMP2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.09 SLC17A5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.09 LAMP1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.09 LAMP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.09 LAMP1 LAMP2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.09 LAMP2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.09 SLC17A5 LAMP2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.09 LAMP1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.09 LAMP2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.09 SLC17A5

Drugs & Therapeutics for Salla Disease

Search Clinical Trials , NIH Clinical Center for Salla Disease

Genetic Tests for Salla Disease

Genetic tests related to Salla Disease:

# Genetic test Affiliating Genes
1 Salla Disease 28 SLC17A5

Anatomical Context for Salla Disease

MalaCards organs/tissues related to Salla Disease:

38
Brain, Testes

Publications for Salla Disease

Articles related to Salla Disease:

(show all 49)
# Title Authors Year
1
A New Patient With Intermediate Severe Salla DiseaseA With Hypomyelination: A Literature Review for Salla Disease. ( 28662915 )
2017
2
A 13-year follow-up of Finnish patients with Salla disease. ( 26171070 )
2015
3
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings. ( 24993898 )
2014
4
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. ( 23227378 )
2012
5
Salla disease in Turkish children: severe and conventional type. ( 20196397 )
2009
6
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. ( 16170568 )
2005
7
Novel form of intermediate salla disease: clinical and neuroimaging features. ( 16417876 )
2005
8
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. ( 16158439 )
2005
9
Salla disease and ISSD--what does the future hold? ( 15171996 )
2004
10
Neurocognitive profiles in Salla disease. ( 15581157 )
2004
11
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. ( 15635485 )
2004
12
Cerebellar white matter involvement in Salla disease. ( 15179531 )
2004
13
Two cases of Salla disease in Danish children. ( 14696864 )
2003
14
A case of Salla disease with involvement of the cerebellar white matter. ( 12592494 )
2003
15
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. ( 11992753 )
2002
16
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. ( 12121352 )
2002
17
Free sialic acid storage (Salla) disease in Sweden. ( 12578289 )
2002
18
Multiple neuroendocrine disorder in Salla disease. ( 11669356 )
2001
19
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. ( 10891913 )
2000
20
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). ( 9935050 )
1999
21
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. ( 10331697 )
1999
22
Brain involvement in Salla disease. ( 10219409 )
1999
23
Use of isotopically radiolabelled GM3 ganglioside to study metabolic alterations in Salla disease. ( 9343943 )
1997
24
Salla disease--rare or underdiagnosed? ( 9112963 )
1997
25
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. ( 8825046 )
1996
26
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. ( 7557994 )
1995
27
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. ( 7573051 )
1995
28
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. ( 7885532 )
1994
29
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program. ( 1733832 )
1992
30
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. ( 1505579 )
1992
31
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. ( 1959930 )
1991
32
Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease. ( 2381164 )
1990
33
Neuropathology of Salla disease. ( 3287834 )
1988
34
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. ( 3425617 )
1987
35
Disorders of lysosomal membrane transport--cystinosis and Salla disease. ( 3326729 )
1987
36
Pulmonary emphysema in a nonsmoking patient with Salla disease. ( 3565947 )
1987
37
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. ( 3944269 )
1986
38
Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children. ( 3960283 )
1986
39
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. ( 3961501 )
1986
40
Salla disease in one non-Finnish patient. ( 3770005 )
1986
41
Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. ( 3718508 )
1986
42
Copper and zinc metabolism in aspartylglycosaminuria and Salla disease. ( 4012278 )
1985
43
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. ( 4010893 )
1985
44
Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes. ( 4032465 )
1985
45
Clinical and laboratory diagnosis of Salla disease in infancy and childhood. ( 6694015 )
1984
46
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism. ( 6297896 )
1983
47
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. ( 6681560 )
1983
48
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease. ( 510308 )
1979
49
Four patients with a new lysosomal storage disorder (Salla disease). ( 723890 )
1978

Variations for Salla Disease

UniProtKB/Swiss-Prot genetic disease variations for Salla Disease:

71
# Symbol AA change Variation ID SNP ID
1 SLC17A5 p.Arg39Cys VAR_018684 rs80338794
2 SLC17A5 p.Lys136Glu VAR_018685 rs80338795

ClinVar genetic disease variations for Salla Disease:

6 (show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC17A5 NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80338795 GRCh37 Chromosome 6, 74351533: 74351533
2 SLC17A5 NM_012434.4(SLC17A5): c.1007_1008delTA (p.Leu336Trpfs) deletion Pathogenic/Likely pathogenic rs386833987 GRCh37 Chromosome 6, 74325141: 74325142
3 SLC17A5 NM_012434.4(SLC17A5): c.1138_1139delGT (p.Val380Serfs) deletion Likely pathogenic rs386833988 GRCh37 Chromosome 6, 74320243: 74320244
4 SLC17A5 NM_012434.4(SLC17A5): c.1226G> A (p.Gly409Glu) single nucleotide variant Likely pathogenic rs386833989 GRCh37 Chromosome 6, 74320156: 74320156
5 SLC17A5 NM_012434.4(SLC17A5): c.291G> A (p.Thr97=) single nucleotide variant Pathogenic/Likely pathogenic rs386833990 GRCh37 Chromosome 6, 74354130: 74354130
6 SLC17A5 NM_012434.4(SLC17A5): c.309G> A (p.Trp103Ter) single nucleotide variant Likely pathogenic rs386833991 GRCh37 Chromosome 6, 74351630: 74351630
7 SLC17A5 NM_012434.4(SLC17A5): c.507delA (p.Leu170Terfs) deletion Likely pathogenic rs386833992 GRCh37 Chromosome 6, 74351432: 74351432
8 SLC17A5 NM_012434.4(SLC17A5): c.719G> A (p.Trp240Ter) single nucleotide variant Likely pathogenic rs386833993 GRCh37 Chromosome 6, 74345205: 74345205
9 SLC17A5 NM_012434.4(SLC17A5): c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del) deletion Pathogenic/Likely pathogenic rs386833994 GRCh37 Chromosome 6, 74345108: 74345122
10 SLC17A5 NM_012434.4(SLC17A5): c.95-1G> C single nucleotide variant Likely pathogenic rs386833995 GRCh37 Chromosome 6, 74354327: 74354327
11 SLC17A5 NM_012434.4(SLC17A5): c.983G> A (p.Gly328Glu) single nucleotide variant Likely pathogenic rs386833996 GRCh37 Chromosome 6, 74325166: 74325166
12 SLC17A5 NM_012434.4(SLC17A5): c.409delA (p.Met137Cysfs) deletion Likely pathogenic rs794729653 GRCh38 Chromosome 6, 73641807: 73641807
13 SLC17A5 NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic rs80338794 GRCh37 Chromosome 6, 74354306: 74354306
14 SLC17A5 SLC17A5, 15-BP DEL, NT802 deletion Pathogenic
15 SLC17A5 NM_012434.4(SLC17A5): c.1350+1G> A single nucleotide variant Likely pathogenic rs1057516951 GRCh37 Chromosome 6, 74310073: 74310073
16 SLC17A5 NM_012434.4(SLC17A5): c.1259+1G> A single nucleotide variant Likely pathogenic rs146095590 GRCh37 Chromosome 6, 74320122: 74320122
17 SLC17A5 NM_012434.4(SLC17A5): c.1127delC (p.Ala376Glufs) deletion Likely pathogenic rs1057517111 GRCh38 Chromosome 6, 73610532: 73610532
18 SLC17A5 NM_012434.4(SLC17A5): c.1121delG (p.Gly374Aspfs) deletion Likely pathogenic rs1057517119 GRCh38 Chromosome 6, 73610538: 73610538
19 SLC17A5 NM_012434.4(SLC17A5): c.1016G> A (p.Trp339Ter) single nucleotide variant Likely pathogenic rs1057516910 GRCh37 Chromosome 6, 74325133: 74325133
20 SLC17A5 NM_012434.4(SLC17A5): c.909G> A (p.Trp303Ter) single nucleotide variant Likely pathogenic rs1057516601 GRCh37 Chromosome 6, 74331596: 74331596
21 SLC17A5 NM_012434.4(SLC17A5): c.905delA (p.Asn302Thrfs) deletion Likely pathogenic rs771156053 GRCh37 Chromosome 6, 74331600: 74331600
22 SLC17A5 NM_012434.4(SLC17A5): c.819+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057517028 GRCh38 Chromosome 6, 73635381: 73635381
23 SLC17A5 NM_012434.4(SLC17A5): c.693delC (p.Phe233Leufs) deletion Likely pathogenic rs1057516862 GRCh38 Chromosome 6, 73636628: 73636628
24 SLC17A5 NM_012434.4(SLC17A5): c.423delT (p.Phe141Leufs) deletion Likely pathogenic rs1057516419 GRCh38 Chromosome 6, 73641793: 73641793
25 SLC17A5 NM_012434.4(SLC17A5): c.384T> A (p.Tyr128Ter) single nucleotide variant Likely pathogenic rs1057516257 GRCh38 Chromosome 6, 73641832: 73641832
26 SLC17A5 NM_012434.4(SLC17A5): c.349dupT (p.Tyr117Leufs) duplication Likely pathogenic rs1057516492 GRCh38 Chromosome 6, 73641867: 73641867
27 SLC17A5 NM_012434.4(SLC17A5): c.292-2A> C single nucleotide variant Likely pathogenic rs1057516528 GRCh38 Chromosome 6, 73641926: 73641926
28 SLC17A5 NM_012434.4(SLC17A5): c.215_216delCA (p.Thr72Asnfs) deletion Likely pathogenic rs1057516505 GRCh37 Chromosome 6, 74354205: 74354206
29 SLC17A5 NM_012434.4(SLC17A5): c.215delC (p.Thr72Lysfs) deletion Likely pathogenic rs1057517269 GRCh38 Chromosome 6, 73644483: 73644483
30 SLC17A5 NM_012434.4(SLC17A5): c.204delA (p.Asp69Ilefs) deletion Likely pathogenic rs1057516549 GRCh38 Chromosome 6, 73644494: 73644494
31 SLC17A5 NM_012434.4(SLC17A5): c.116G> A (p.Arg39His) single nucleotide variant Likely pathogenic rs769235753 GRCh38 Chromosome 6, 73644582: 73644582

Expression for Salla Disease

Search GEO for disease gene expression data for Salla Disease.

Pathways for Salla Disease

Pathways related to Salla Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.57 LAMP1 LAMP2
2 11.44 LAMP1 LAMP2
3 11.26 LAMP1 LAMP2
4 10.98 LAMP1 LAMP2
5 10.89 LAMP1 LAMP2 SLC17A5

GO Terms for Salla Disease

Cellular components related to Salla Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.54 LAMP1 LAMP2 SLC17A5
2 endosome membrane GO:0010008 9.43 LAMP1 LAMP2
3 late endosome GO:0005770 9.4 LAMP1 LAMP2
4 lysosome GO:0005764 9.33 LAMP1 LAMP2 SLC17A5
5 ficolin-1-rich granule membrane GO:0101003 9.32 LAMP1 LAMP2
6 azurophil granule membrane GO:0035577 9.26 LAMP1 LAMP2
7 lysosomal membrane GO:0005765 9.13 LAMP1 LAMP2 SLC17A5
8 autolysosome GO:0044754 8.62 LAMP1 LAMP2

Biological processes related to Salla Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 8.62 LAMP1 LAMP2

Molecular functions related to Salla Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.96 LAMP1 LAMP2
2 protein domain specific binding GO:0019904 8.62 LAMP1 LAMP2

Sources for Salla Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....